Canonical Allele Identifier: CA915949477

Gene: GP1BA CHRNE

Linked Data

• ClinVar Variation Id: 627001
• ClinVar RCV Id: RCV000851697
• dbSNP Id: rs1597638379
• gnomAD v4: 17-4932751-AAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4932752_4932753del , CM000679.2:g.4932752_4932753del	GRCh38
NC_000017.10:g.4836047_4836048del , CM000679.1:g.4836047_4836048del	GRCh37
NC_000017.9:g.4776827_4776828del	NCBI36
NG_008767.2:g.5458_5459del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.148_149del (GP1BA) MANE Select	ENSP00000329380.5:p.Thr50HisfsTer6
ENST00000649830.1:c.-888+1589_-888+1590del (CHRNE)	ENSP00000496907.1:n.-888+1589_-888+1590del
ENST00000329125.5:c.148_149del (GP1BA)	ENSP00000329380.5:p.Thr50HisfsTer6
ENST00000611961.1:c.148_149del (GP1BA)	ENSP00000484439.1:p.Thr50HisfsTer6
NM_000173.6:c.148_149del (GP1BA)	NP_000164.5:p.Thr50HisfsTer6
NM_000173.7:c.148_149del (GP1BA) MANE Select	NP_000164.5:p.Thr50HisfsTer6